Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000405	HP:0000405	Conductive hearing impairment	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0000405	HP:0000405	Conductive hearing impairment	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0000405	HP:0000405	Conductive hearing impairment	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0000405	HP:0000405	Conductive hearing impairment	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000405	HP:0000405	Conductive hearing impairment	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000405	HP:0000405	Conductive hearing impairment	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0000405	HP:0000405	Conductive hearing impairment	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000405	HP:0000405	Conductive hearing impairment	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000405	HP:0000405	Conductive hearing impairment	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000405	HP:0000405	Conductive hearing impairment	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000405	HP:0000405	Conductive hearing impairment	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000405	HP:0000405	Conductive hearing impairment	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0000405	HP:0000405	Conductive hearing impairment	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000405	HP:0000405	Conductive hearing impairment	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional	164
HP:0000405	HP:0000405	Conductive hearing impairment	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0000405	HP:0000405	Conductive hearing impairment	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0000405	HP:0000405	Conductive hearing impairment	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	6
HP:0000405	HP:0000405	Conductive hearing impairment	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0000405	HP:0000405	Conductive hearing impairment	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000405	HP:0000405	Conductive hearing impairment	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0000405	HP:0000405	Conductive hearing impairment	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000405	HP:0000405	Conductive hearing impairment	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0000405	HP:0000405	Conductive hearing impairment	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000405	HP:0000405	Conductive hearing impairment	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0000405	HP:0000405	Conductive hearing impairment	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0000405	HP:0000405	Conductive hearing impairment	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0000405	HP:0000405	Conductive hearing impairment	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000405	HP:0000405	Conductive hearing impairment	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	38
HP:0000405	HP:0000405	Conductive hearing impairment	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0000405	HP:0000405	Conductive hearing impairment	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000405	HP:0000405	Conductive hearing impairment	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0000405	HP:0000405	Conductive hearing impairment	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000405	HP:0000405	Conductive hearing impairment	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0000405	HP:0000405	Conductive hearing impairment	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	36
HP:0000405	HP:0000405	Conductive hearing impairment	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	126
HP:0000405	HP:0000405	Conductive hearing impairment	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	182
HP:0000405	HP:0000405	Conductive hearing impairment	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0000405	HP:0000405	Conductive hearing impairment	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0000405	HP:0000405	Conductive hearing impairment	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000405	HP:0000405	Conductive hearing impairment	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent	1003
HP:0000405	HP:0000405	Conductive hearing impairment	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1003
HP:0000405	HP:0000405	Conductive hearing impairment	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000405	HP:0000405	Conductive hearing impairment	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0000405	HP:0000405	Conductive hearing impairment	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0000405	HP:0000405	Conductive hearing impairment	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0000405	HP:0000405	Conductive hearing impairment	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	HP:0040284 - Very rare
HP:0000405	HP:0000405	Conductive hearing impairment	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000405	HP:0000405	Conductive hearing impairment	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0000405	HP:0000405	Conductive hearing impairment	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000405	HP:0000405	Conductive hearing impairment	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0000405	HP:0000405	Conductive hearing impairment	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0000405	HP:0000405	Conductive hearing impairment	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0000405	HP:0000405	Conductive hearing impairment	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000405	HP:0000405	Conductive hearing impairment	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000405	HP:0000405	Conductive hearing impairment	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0000405	HP:0000405	Conductive hearing impairment	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0000405	HP:0000405	Conductive hearing impairment	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0000405	HP:0000405	Conductive hearing impairment	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0000405	HP:0000405	Conductive hearing impairment	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0000405	HP:0000405	Conductive hearing impairment	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0000405	HP:0000405	Conductive hearing impairment	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000405	HP:0000405	Conductive hearing impairment	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000405	HP:0000405	Conductive hearing impairment	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0000405	HP:0000405	Conductive hearing impairment	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0000405	HP:0000405	Conductive hearing impairment	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000405	HP:0000405	Conductive hearing impairment	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0000405	HP:0000405	Conductive hearing impairment	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000405	HP:0000405	Conductive hearing impairment	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000405	HP:0000405	Conductive hearing impairment	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent	27
HP:0000405	HP:0000405	Conductive hearing impairment	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000405	HP:0000405	Conductive hearing impairment	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000405	HP:0000405	Conductive hearing impairment	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0000405	HP:0000405	Conductive hearing impairment	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000405	HP:0000405	Conductive hearing impairment	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000405	HP:0000405	Conductive hearing impairment	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent	59
HP:0000405	HP:0000405	Conductive hearing impairment	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	116
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	78
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	63
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	27
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	62
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	542
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	527
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	18
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	73
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	104
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	2
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	167
HP:0000405	HP:0000405	Conductive hearing impairment	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	44
HP:0000405	HP:0000405	Conductive hearing impairment	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	44
HP:0000405	HP:0000405	Conductive hearing impairment	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional	14
HP:0000405	HP:0000405	Conductive hearing impairment	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0000405	HP:0000405	Conductive hearing impairment	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000405	HP:0000405	Conductive hearing impairment	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040283 - Occasional	48
HP:0000405	HP:0000405	Conductive hearing impairment	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000405	HP:0000405	Conductive hearing impairment	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88		1
HP:0000405	HP:0000405	Conductive hearing impairment	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0000405	HP:0000405	Conductive hearing impairment	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000405	HP:0000405	Conductive hearing impairment	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	112
HP:0000405	HP:0000405	Conductive hearing impairment	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0000405	HP:0000405	Conductive hearing impairment	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0000405	HP:0000405	Conductive hearing impairment	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0000405	HP:0000405	Conductive hearing impairment	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0000405	HP:0000405	Conductive hearing impairment	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	135
HP:0000405	HP:0000405	Conductive hearing impairment	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000405	HP:0000405	Conductive hearing impairment	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000405	HP:0000405	Conductive hearing impairment	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.	135
HP:0000405	HP:0000405	Conductive hearing impairment	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0000405	HP:0000405	Conductive hearing impairment	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0000405	HP:0000405	Conductive hearing impairment	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0000405	HP:0000405	Conductive hearing impairment	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000405	HP:0000405	Conductive hearing impairment	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000405	HP:0000405	Conductive hearing impairment	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0000405	HP:0000405	Conductive hearing impairment	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent	114
HP:0000405	HP:0000405	Conductive hearing impairment	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0000405	HP:0000405	Conductive hearing impairment	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000405	HP:0000405	Conductive hearing impairment	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0000405	HP:0000405	Conductive hearing impairment	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	75
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent	175
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0000405	HP:0000405	Conductive hearing impairment	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000405	HP:0000405	Conductive hearing impairment	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0000405	HP:0000405	Conductive hearing impairment	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040284 - Very rare	13
HP:0000405	HP:0000405	Conductive hearing impairment	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0000405	HP:0000405	Conductive hearing impairment	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000405	HP:0000405	Conductive hearing impairment	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000405	HP:0000405	Conductive hearing impairment	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040283 - Occasional	233
HP:0000405	HP:0000405	Conductive hearing impairment	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0000405	HP:0000405	Conductive hearing impairment	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0000405	HP:0000405	Conductive hearing impairment	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000405	HP:0000405	Conductive hearing impairment	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0000405	HP:0000405	Conductive hearing impairment	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0000405	HP:0000405	Conductive hearing impairment	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0000405	HP:0000405	Conductive hearing impairment	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0000405	HP:0000405	Conductive hearing impairment	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000405	HP:0000405	Conductive hearing impairment	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0000405	HP:0000405	Conductive hearing impairment	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	9
HP:0000405	HP:0000405	Conductive hearing impairment	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0000405	HP:0000405	Conductive hearing impairment	0	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	52
HP:0000405	HP:0000405	Conductive hearing impairment	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000405	HP:0000405	Conductive hearing impairment	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional	68
HP:0000405	HP:0000405	Conductive hearing impairment	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0000405	HP:0000405	Conductive hearing impairment	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000405	HP:0000405	Conductive hearing impairment	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0000405	HP:0000405	Conductive hearing impairment	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2	.	199
HP:0000405	HP:0000405	Conductive hearing impairment	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0000405	HP:0000405	Conductive hearing impairment	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2	.	56
HP:0000405	HP:0000405	Conductive hearing impairment	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000405	HP:0000405	Conductive hearing impairment	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent	240
HP:0000405	HP:0000405	Conductive hearing impairment	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0000405	HP:0000405	Conductive hearing impairment	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional	12
HP:0000405	HP:0000405	Conductive hearing impairment	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0000405	HP:0000405	Conductive hearing impairment	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0000405	HP:0000405	Conductive hearing impairment	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0000405	HP:0000405	Conductive hearing impairment	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional	33
HP:0000405	HP:0000405	Conductive hearing impairment	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000405	HP:0000405	Conductive hearing impairment	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0000405	HP:0000405	Conductive hearing impairment	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0000405	HP:0000405	Conductive hearing impairment	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0000405	HP:0000405	Conductive hearing impairment	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0000405	HP:0000405	Conductive hearing impairment	0	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000405	HP:0000405	Conductive hearing impairment	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0000405	HP:0000405	Conductive hearing impairment	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0000405	HP:0000405	Conductive hearing impairment	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000405	HP:0000405	Conductive hearing impairment	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0000405	HP:0000405	Conductive hearing impairment	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0000405	HP:0000405	Conductive hearing impairment	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0000405	HP:0000405	Conductive hearing impairment	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000405	HP:0000405	Conductive hearing impairment	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000405	HP:0000405	Conductive hearing impairment	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000405	HP:0000405	Conductive hearing impairment	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0000405	HP:0000405	Conductive hearing impairment	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0000405	HP:0000405	Conductive hearing impairment	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0000405	HP:0000405	Conductive hearing impairment	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	99
HP:0000405	HP:0000405	Conductive hearing impairment	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	99
HP:0000405	HP:0000405	Conductive hearing impairment	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0000405	HP:0000405	Conductive hearing impairment	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	53
HP:0000405	HP:0000405	Conductive hearing impairment	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0000405	HP:0000405	Conductive hearing impairment	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0000405	HP:0000405	Conductive hearing impairment	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0000405	HP:0000405	Conductive hearing impairment	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	660
HP:0000405	HP:0000405	Conductive hearing impairment	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000405	HP:0000405	Conductive hearing impairment	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0000405	HP:0000405	Conductive hearing impairment	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000405	HP:0000405	Conductive hearing impairment	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0000405	HP:0000405	Conductive hearing impairment	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1	.	125
HP:0000405	HP:0000405	Conductive hearing impairment	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0000405	HP:0000405	Conductive hearing impairment	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form		136
HP:0000405	HP:0000405	Conductive hearing impairment	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0000405	HP:0000405	Conductive hearing impairment	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000405	HP:0000405	Conductive hearing impairment	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent	11
HP:0000405	HP:0000405	Conductive hearing impairment	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0000405	HP:0000405	Conductive hearing impairment	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0000405	HP:0000405	Conductive hearing impairment	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000405	HP:0000405	Conductive hearing impairment	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0000405	HP:0000405	Conductive hearing impairment	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	13
HP:0000405	HP:0000405	Conductive hearing impairment	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0000405	HP:0000405	Conductive hearing impairment	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0000405	HP:0000405	Conductive hearing impairment	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	12
HP:0000405	HP:0000405	Conductive hearing impairment	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	12
HP:0000405	HP:0000405	Conductive hearing impairment	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0000405	HP:0000405	Conductive hearing impairment	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0000405	HP:0000405	Conductive hearing impairment	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0000405	HP:0000405	Conductive hearing impairment	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000405	HP:0000405	Conductive hearing impairment	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0000405	HP:0000405	Conductive hearing impairment	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000405	HP:0000405	Conductive hearing impairment	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent	40
HP:0000405	HP:0000405	Conductive hearing impairment	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000405	HP:0000405	Conductive hearing impairment	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000405	HP:0000405	Conductive hearing impairment	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	50
HP:0000405	HP:0000405	Conductive hearing impairment	0	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	22
HP:0000405	HP:0000405	Conductive hearing impairment	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0000405	HP:0000405	Conductive hearing impairment	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent	22
HP:0000405	HP:0000405	Conductive hearing impairment	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0000405	HP:0000405	Conductive hearing impairment	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000405	HP:0000405	Conductive hearing impairment	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000405	HP:0000405	Conductive hearing impairment	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000405	HP:0000405	Conductive hearing impairment	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000405	HP:0000405	Conductive hearing impairment	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0000405	HP:0000405	Conductive hearing impairment	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000405	HP:0000405	Conductive hearing impairment	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000405	HP:0000405	Conductive hearing impairment	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000405	HP:0000405	Conductive hearing impairment	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000405	HP:0000405	Conductive hearing impairment	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0000405	HP:0000405	Conductive hearing impairment	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	201
HP:0000405	HP:0000405	Conductive hearing impairment	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0000405	HP:0000405	Conductive hearing impairment	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040283 - Occasional	73
HP:0000405	HP:0000405	Conductive hearing impairment	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000405	HP:0000405	Conductive hearing impairment	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000405	HP:0000405	Conductive hearing impairment	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0000405	HP:0000405	Conductive hearing impairment	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0000405	HP:0000405	Conductive hearing impairment	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0000405	HP:0000405	Conductive hearing impairment	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	337
HP:0000405	HP:0000405	Conductive hearing impairment	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23	.	15
HP:0000405	HP:0000405	Conductive hearing impairment	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0000405	HP:0000405	Conductive hearing impairment	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000405	HP:0000405	Conductive hearing impairment	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000405	HP:0000405	Conductive hearing impairment	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0000405	HP:0000405	Conductive hearing impairment	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0000405	HP:0000405	Conductive hearing impairment	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.	31
HP:0000405	HP:0000405	Conductive hearing impairment	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0000405	HP:0000405	Conductive hearing impairment	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0000405	HP:0000405	Conductive hearing impairment	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000405	HP:0000405	Conductive hearing impairment	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000405	HP:0000405	Conductive hearing impairment	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000405	HP:0000405	Conductive hearing impairment	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2	.	40
HP:0000405	HP:0000405	Conductive hearing impairment	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	58
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0000405	HP:0000405	Conductive hearing impairment	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0000405	HP:0000405	Conductive hearing impairment	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000405	HP:0000405	Conductive hearing impairment	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000405	HP:0000405	Conductive hearing impairment	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0000405	HP:0000405	Conductive hearing impairment	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0000405	HP:0000405	Conductive hearing impairment	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000405	HP:0000405	Conductive hearing impairment	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000405	HP:0000405	Conductive hearing impairment	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0000405	HP:0000405	Conductive hearing impairment	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000405	HP:0000405	Conductive hearing impairment	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0000405	HP:0000405	Conductive hearing impairment	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0000405	HP:0000405	Conductive hearing impairment	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	572
HP:0000405	HP:0000405	Conductive hearing impairment	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000405	HP:0000405	Conductive hearing impairment	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0000405	HP:0000405	Conductive hearing impairment	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000405	HP:0000405	Conductive hearing impairment	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0000405	HP:0000405	Conductive hearing impairment	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0000405	HP:0000405	Conductive hearing impairment	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0000405	HP:0000405	Conductive hearing impairment	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000405	HP:0000405	Conductive hearing impairment	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000405	HP:0000405	Conductive hearing impairment	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0000405	HP:0000405	Conductive hearing impairment	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	200
HP:0000405	HP:0000405	Conductive hearing impairment	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0000405	HP:0000405	Conductive hearing impairment	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000405	HP:0000405	Conductive hearing impairment	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000405	HP:0000405	Conductive hearing impairment	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000405	HP:0000405	Conductive hearing impairment	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	31
HP:0000405	HP:0000405	Conductive hearing impairment	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	5
HP:0000405	HP:0000405	Conductive hearing impairment	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	58
HP:0000405	HP:0000405	Conductive hearing impairment	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0000405	HP:0000405	Conductive hearing impairment	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0000405	HP:0000405	Conductive hearing impairment	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0000405	HP:0000405	Conductive hearing impairment	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000405	HP:0000405	Conductive hearing impairment	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0000405	HP:0000405	Conductive hearing impairment	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0000405	HP:0000405	Conductive hearing impairment	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0000405	HP:0000405	Conductive hearing impairment	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	237
HP:0000405	HP:0000405	Conductive hearing impairment	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0000405	HP:0000405	Conductive hearing impairment	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0000405	HP:0000405	Conductive hearing impairment	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0000405	HP:0000405	Conductive hearing impairment	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	129
HP:0000405	HP:0000405	Conductive hearing impairment	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000405	HP:0000405	Conductive hearing impairment	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000405	HP:0000405	Conductive hearing impairment	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000405	HP:0000405	Conductive hearing impairment	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000405	HP:0000405	Conductive hearing impairment	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000405	HP:0000405	Conductive hearing impairment	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	50
HP:0000405	HP:0000405	Conductive hearing impairment	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000405	HP:0000405	Conductive hearing impairment	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0000405	HP:0000405	Conductive hearing impairment	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0000405	HP:0000405	Conductive hearing impairment	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000405	HP:0000405	Conductive hearing impairment	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0000405	HP:0000405	Conductive hearing impairment	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000405	HP:0000405	Conductive hearing impairment	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000405	HP:0000405	Conductive hearing impairment	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000405	HP:0000405	Conductive hearing impairment	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000405	HP:0000405	Conductive hearing impairment	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000405	HP:0000405	Conductive hearing impairment	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0000405	HP:0000405	Conductive hearing impairment	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000405	HP:0000405	Conductive hearing impairment	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent	6
HP:0000405	HP:0000405	Conductive hearing impairment	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040282 - Frequent	26
HP:0000405	HP:0000405	Conductive hearing impairment	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000405	HP:0000405	Conductive hearing impairment	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	45
HP:0000405	HP:0000405	Conductive hearing impairment	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000405	HP:0000405	Conductive hearing impairment	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	15
HP:0000405	HP:0000405	Conductive hearing impairment	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0000405	HP:0000405	Conductive hearing impairment	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000405	HP:0000405	Conductive hearing impairment	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000405	HP:0000405	Conductive hearing impairment	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000405	HP:0000405	Conductive hearing impairment	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0000405	HP:0000405	Conductive hearing impairment	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional	14
HP:0000405	HP:0000405	Conductive hearing impairment	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	3
HP:0000405	HP:0000405	Conductive hearing impairment	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0000405	HP:0000405	Conductive hearing impairment	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional	28
HP:0000405	HP:0000405	Conductive hearing impairment	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000405	HP:0000405	Conductive hearing impairment	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0000405	HP:0000405	Conductive hearing impairment	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000405	HP:0000405	Conductive hearing impairment	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0000405	HP:0000405	Conductive hearing impairment	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0000405	HP:0000405	Conductive hearing impairment	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000405	HP:0000405	Conductive hearing impairment	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000405	HP:0000405	Conductive hearing impairment	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0000405	HP:0000405	Conductive hearing impairment	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0000405	HP:0000405	Conductive hearing impairment	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0000405	HP:0000405	Conductive hearing impairment	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0000405	HP:0000405	Conductive hearing impairment	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0000405	HP:0000405	Conductive hearing impairment	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0000405	HP:0000405	Conductive hearing impairment	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0000405	HP:0000405	Conductive hearing impairment	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000405	HP:0000405	Conductive hearing impairment	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	140
HP:0000405	HP:0000405	Conductive hearing impairment	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	140
HP:0000405	HP:0000405	Conductive hearing impairment	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0000405	HP:0000405	Conductive hearing impairment	0	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital	.	111
HP:0000405	HP:0000405	Conductive hearing impairment	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0000405	HP:0000405	Conductive hearing impairment	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000405	HP:0000405	Conductive hearing impairment	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0000405	HP:0000405	Conductive hearing impairment	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0000405	HP:0000405	Conductive hearing impairment	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000405	HP:0000405	Conductive hearing impairment	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000405	HP:0000405	Conductive hearing impairment	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000405	HP:0000405	Conductive hearing impairment	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0000405	HP:0000405	Conductive hearing impairment	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000405	HP:0000405	Conductive hearing impairment	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0000405	HP:0000405	Conductive hearing impairment	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	490
HP:0000405	HP:0000405	Conductive hearing impairment	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent	17
HP:0000405	HP:0000405	Conductive hearing impairment	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83
HP:0000405	HP:0000405	Conductive hearing impairment	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0000405	HP:0000405	Conductive hearing impairment	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000405	HP:0000405	Conductive hearing impairment	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	397
HP:0000405	HP:0000405	Conductive hearing impairment	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0000405	HP:0000405	Conductive hearing impairment	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000405	HP:0012716	Moderate conductive hearing impairment	1	CL E G H
HP:0000405	HP:0000410	Mixed hearing impairment	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0000405	HP:0000410	Mixed hearing impairment	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000405	HP:0008591	Congenital conductive hearing impairment	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000405	HP:0000410	Mixed hearing impairment	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	.	2
HP:0000405	HP:0000410	Mixed hearing impairment	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0000405	HP:0008513	Bilateral conductive hearing impairment	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0000405	HP:0000410	Mixed hearing impairment	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0000405	HP:0000410	Mixed hearing impairment	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0000405	HP:0008607	Progressive conductive hearing impairment	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000405	HP:0000410	Mixed hearing impairment	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent	2
HP:0000405	HP:0000410	Mixed hearing impairment	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0000405	HP:0000410	Mixed hearing impairment	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000405	HP:0000410	Mixed hearing impairment	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0000405	HP:0012717	Severe conductive hearing impairment	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0000405	HP:0008598	Mild conductive hearing impairment	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000405	HP:0000410	Mixed hearing impairment	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000405	HP:0008513	Bilateral conductive hearing impairment	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	HP:0040283 - Occasional	6
HP:0000405	HP:0000410	Mixed hearing impairment	1	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88		1
HP:0000405	HP:0000410	Mixed hearing impairment	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0000405	HP:0000410	Mixed hearing impairment	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000405	HP:0000410	Mixed hearing impairment	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000405	HP:0000410	Mixed hearing impairment	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0000405	HP:0000410	Mixed hearing impairment	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000405	HP:0000410	Mixed hearing impairment	1	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0000405	HP:0000410	Mixed hearing impairment	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000405	HP:0000410	Mixed hearing impairment	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000405	HP:0000410	Mixed hearing impairment	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000405	HP:0000410	Mixed hearing impairment	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000405	HP:0000410	Mixed hearing impairment	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000405	HP:0000410	Mixed hearing impairment	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000405	HP:0000410	Mixed hearing impairment	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040284 - Very rare	13
HP:0000405	HP:0000410	Mixed hearing impairment	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0000405	HP:0000410	Mixed hearing impairment	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0000405	HP:0000410	Mixed hearing impairment	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000405	HP:0000410	Mixed hearing impairment	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0000405	HP:0000410	Mixed hearing impairment	1	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0000405	HP:0000410	Mixed hearing impairment	1	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0000405	HP:0000410	Mixed hearing impairment	1	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0000405	HP:0000410	Mixed hearing impairment	1	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000405	HP:0000410	Mixed hearing impairment	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000405	HP:0000410	Mixed hearing impairment	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0000405	HP:0000410	Mixed hearing impairment	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0000405	HP:0000410	Mixed hearing impairment	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0000405	HP:0008513	Bilateral conductive hearing impairment	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000405	HP:0008513	Bilateral conductive hearing impairment	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0000405	HP:0008607	Progressive conductive hearing impairment	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0000405	HP:0000410	Mixed hearing impairment	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000405	HP:0000410	Mixed hearing impairment	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000405	HP:0000410	Mixed hearing impairment	1	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0000405	HP:0008607	Progressive conductive hearing impairment	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0000405	HP:0000410	Mixed hearing impairment	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0000405	HP:0000410	Mixed hearing impairment	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0000405	HP:0000410	Mixed hearing impairment	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000405	HP:0008513	Bilateral conductive hearing impairment	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0000405	HP:0008513	Bilateral conductive hearing impairment	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0000405	HP:0008513	Bilateral conductive hearing impairment	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000405	HP:0040119	Unilateral conductive hearing impairment	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS